Abstract
We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both metabolites negatively correlated with age (P < 0.05). Plasma and RBC GHB declined with age, reaching a nadir and approximate steady state by 10 years. Declining plasma GABA achieved this approximate steady state at 30-40 years of age. These biomarker relationships may reflect further GABA- and GHB-ergic neurotransmission imbalances that correlate with the onset of adolescent/adulthood neuropsychiatric morbidity and epilepsy in SSADHD.
MeSH terms
-
Adolescent
-
Adult
-
Amino Acid Metabolism, Inborn Errors / blood*
-
Amino Acid Metabolism, Inborn Errors / metabolism*
-
Biomarkers / blood*
-
Child
-
Child, Preschool
-
Developmental Disabilities / blood*
-
Developmental Disabilities / metabolism*
-
Epilepsy / blood
-
Epilepsy / metabolism
-
Female
-
Humans
-
Hydroxybutyrates / metabolism
-
Male
-
Succinate-Semialdehyde Dehydrogenase / blood
-
Succinate-Semialdehyde Dehydrogenase / deficiency*
-
Succinate-Semialdehyde Dehydrogenase / metabolism
-
Synaptic Transmission / physiology
-
Young Adult
-
gamma-Aminobutyric Acid / metabolism*
Substances
-
Biomarkers
-
Hydroxybutyrates
-
4-hydroxybutyric acid
-
gamma-Aminobutyric Acid
-
Succinate-Semialdehyde Dehydrogenase
Supplementary concepts
-
succinic semialdehyde dehydrogenase deficiency